HLA-B*57:01 Genotype, Pharmacogenomics, Varies
Use
The HLA-B*57:01 genotype test is significant for identifying individuals at increased risk of hypersensitivity reactions to abacavir based on the presence of the HLA-B*57:01 allele. The test is also useful for patients taking pazopanib who may have an increased risk of elevated alanine aminotransferase levels due to this allele. HLA-B*57:01 is associated with abacavir hypersensitivity reactions, which occur typically within the first six weeks of treatment and can be fatal. Identification of this allele aids in the prevention of starting abacavir in individuals who are at risk of hypersensitivity. Additionally, pazopanib-associated liver injury is linked to this allele carrier status.
Special Instructions
For cord blood specimens with maternal blood, maternal cell contamination studies are recommended. A maternal blood specimen is required to complete maternal cell contamination studies. Order MATCC / Maternal Cell Contamination, Molecular Analysis, Varies on both the cord blood and maternal blood specimens under separate order numbers. Patients should be informed about the implications of the genetic test and provide consent. New York clients must have documented informed consent.
Limitations
Results may be compromised if specimens contain donor DNA, such as from non-leukoreduced blood transfusions or allogeneic hematopoietic stem cell transplantations. The presence of rare or novel variants can lead to false-positive/negative results. Some HLA-B alleles or subtypes may interfere with the assay and are not covered by the current data, which could affect the results for abacavir hypersensitivity or pazopanib hepatotoxicity.
New York Approved
Methodology
PCR-based (qPCR)
Biomarkers
LOINC Codes
- 50956-2
- 50956-2
- 93308-5
- 69047-9
- 48767-8
- 85069-3
Result Turnaround Time
3-7 days
Related Documents
For more information, please review the documents below
Specimen
Whole Blood
Volume
3 mL
Minimum Volume
Not provided
Container
Lavender top (EDTA)
Collection Instructions
Invert several times to mix blood. Send whole blood specimen in original tube. Do not aliquot. Whole blood collected postnatal from an umbilical cord is also acceptable. See Additional Information
Stability Requirements
| Temperature | Period |
|---|---|
| Room Temperature | 4 days |
| Refrigerated | 4 days |
| Frozen | 4 days |